TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation

Background:Mutations in the gene encoding TDP-43 have been identified in both familial and sporadic amyotrophic lateral sclerosis (ALS).Methods:A mutation screen and copy number analysis in a motor neuron disease clinic cohort was conducted to characterise the genetic contribution of TARDBP.Results:...

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